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Gene | FLT3 |
Variant | C694S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FLT3 C694S lies within the protein kinase domain of the Flt3 protein (UniProt.org). C694S does not alter dimerization but results in decreased kinase activity, phosphorylation of Flt3, Stat5, and Erk, and transformation in the context of FLT3 internal tandem duplication (FLT3-ITD) in cultured cells (PMID: 31606550), but has not been individually characterized and therefore, its effect on Flt3 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
FLT3 mutant FLT3 exon17 FLT3 C694S |
Transcript | NM_004119.3 |
gDNA | chr13:g.28027215A>T |
cDNA | c.2080T>A |
Protein | p.C694S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004119.2 | chr13:g.28027215A>T | c.2080T>A | p.C694S | RefSeq | GRCh38/hg38 |
NM_004119.3 | chr13:g.28027215A>T | c.2080T>A | p.C694S | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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